● Two exome panels available based on target enrichment with probes: SureSelect Human All Exon v6 (Agilent) and xGen Exome Hybridization Panel v2 (IDT).
- Based on the SureSelect Human All Exon V6 Panel, UTR regions and full-length mtDNA are supplemented to the target capture range.
- UMI-enabled library construction is available with the SureSelect Human All Exon V6 Panel.
● Sequencing on Illumina NovaSeq.
● Bioinformatic pipeline directed towards disease analysis or tumor analysis.
Bioinformatic analysis of tumor samples includes:
● Sequencing data QC
● Reference Genome Alignment
● Identification of SNPs, InDels and somatic variations
● Identification of germline variants
● Mutation signatures analysis
● Identification of drive genes based on gain-of-function mutations
● Mutation annotation at the level of drug susceptibility
● Heterogeneity analysis – calculation of purity and ploidy